| Genename | Variants |
|---|---|
| ABI3BP(NM_015429,ABI family, member 3 (NESH) binding protein,1075aa) | g.3:100585785A>C,c.947T>G,p.L316W |
| ABI3BP(NM_015429,ABI family, member 3 (NESH) binding protein,1075aa) | g.3:100566500C>T,c.1468G>A,p.G490R |
| ABI3BP(NM_015429,ABI family, member 3 (NESH) binding protein,1075aa) | g.3:100565278G>A,c.1535C>T,p.T512I |
| ABI3BP(NM_015429,ABI family, member 3 (NESH) binding protein,1075aa) | g.3:100527069C>G,c.1608G>C,p.Q536H |
| ABI3BP(NM_015429,ABI family, member 3 (NESH) binding protein,1075aa) | g.3:100523692C>G,c.1691G>C,p.R564P |
| ABI3BP(NM_015429,ABI family, member 3 (NESH) binding protein,1075aa) | g.3:100523671G>A,c.1712C>T,p.T571M |
| ABI3BP(NM_015429,ABI family, member 3 (NESH) binding protein,1075aa) | g.3:100511564C>T,c.1937G>A,p.R646Q |
| ABI3BP(NM_015429,ABI family, member 3 (NESH) binding protein,1075aa) | g.3:100497220C>G,c.2108G>C,p.G703A |
| ABI3BP(NM_015429,ABI family, member 3 (NESH) binding protein,1075aa) | g.3:100497179G>A,c.2149C>T,p.R717X |
| ABI3BP(NM_015429,ABI family, member 3 (NESH) binding protein,1075aa) | g.3:100494090T>C,c.2290A>G,p.I764V |
| ABI3BP(NM_015429,ABI family, member 3 (NESH) binding protein,1075aa) | g.3:100494075C>G,c.2305G>C,p.V769L |
| ABI1(NM_005470,abl-interactor 1,508aa) | g.10:27066023C>T,c.433G>A,p.V145I |
| ABI1(NM_005470,abl-interactor 1,508aa) | g.10:27040624_27040626del,c.1252_1254del,p.418del |
| ABHD8(NM_024527,abhydrolase domain containing 8,439aa) | g.19:17412218C>T,c.208G>A,p.G70R |
| ABHD6(NM_020676,abhydrolase domain containing 6,337aa) | g.3:58242348C>T,c.35C>T,p.A12V |
| ABHD6(NM_020676,abhydrolase domain containing 6,337aa) | g.3:58242333A>G,c.20A>G,p.N7S |
| ABHD5(NM_016006,abhydrolase domain containing 5,349aa) | g.3:43753322C>G,c.628C>G,p.P210A |
| ABHD5(NM_016006,abhydrolase domain containing 5,349aa) | g.3:43743914G>T,c.341G>T,p.R114L |
| ABHD5(NM_016006,abhydrolase domain containing 5,349aa) | g.3:43743788T>C,c.215T>C,p.I72T |
| ABHD5(NM_016006,abhydrolase domain containing 5,349aa) | g.3:43732510A>G,c.26A>G,p.D9G |
| ABHD4(NM_022060,abhydrolase domain containing 4,342aa) | g.14:23078730A>G,c.853A>G,p.M285V |
| ABHD4(NM_022060,abhydrolase domain containing 4,342aa) | g.14:23072969G>A,c.625G>A,p.V209I |
| ABHD4(NM_022060,abhydrolase domain containing 4,342aa) | g.14:23072967G>A,c.623G>A,p.R208Q |
| ABHD3(NM_138340,abhydrolase domain containing 3,409aa) | g.18:19244126G>T,c.621C>A,p.S207R |
| ABHD2(NM_007011,abhydrolase domain containing 2,425aa) | g.15:89738538G>A,c.1162G>A,p.E388K |
| ABHD2(NM_007011,abhydrolase domain containing 2,425aa) | g.15:89736497C>T,c.1028C>T,p.A343V |
| ABHD2(NM_007011,abhydrolase domain containing 2,425aa) | g.15:89719111G>A,c.607G>A,p.V203I |
| ABHD2(NM_007011,abhydrolase domain containing 2,425aa) | g.15:89659716G>A,c.158G>A,p.R53H |